Minor Allele Frequency
Population structure at different minor allele frequency levels
... Inferring population genetic structure from large-scale genotyping of single-nucleotide polymorphisms or variants is an important technique for studying the history and distribution of extant human populations, but it is ...
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NaV channel variants in patients with painful and nonpainful peripheral neuropathy
... (minor allele frequency ,5%) missense variant in at least 1 ...variant allele frequencies of any gene, or SCN9A haplotype frequencies, between PNRR patients with painful or nonpainful ...
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Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease
... BioBin was used to group rare variants by genic region (minor allele frequency (MAF) < 0.01). BioBin uses gene annotations from LOKI (the library of knowledge inte- gration), which contains a ...
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Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities
... After quality control of the 12 regions (see the Methods section above), we obtained genotype data on 137,530 SNVs. Of those, 34,532 (25.11 %) were located in inter- genic regions, 62,427 (45.39 %) were intronic, 1306 ...
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Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
... AQ: Autism Spectrum Quotient; AS: Asperger Syndrome; ASC: Autism Spectrum Conditions; FWER: Family wise error rates; LD: Linkage disequilibrium; MAF: Minor allele frequency; OXT: Oxytoci[r] ...
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P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure
... sources of vegetables, we selectively recruited more unrelated housewives than males. The researchers visited local towns and collected blood samples. Weight was measured in light clothes on a scale and height was mea- ...
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COIL: a methodology for evaluating malarial complexity of infection using likelihood from single nucleotide polymorphism data
... Given the potential importance of COI and the poten- tial inaccuracy or computational complexity of existing methods for estimating COI, there was a perceived need for new tools. This manuscript describes a computation- ...
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
... with minor allele frequency (MAF) ≤ ...(a) minor allele frequencies obtained from the Exome Aggregation Consortium (ExAC) [23] database containing 60,706 exomes of unrelated healthy ...
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Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study
... ACR: American College of Rheumatology; APS1: autoimmune polyendocrinopathy syndrome; CEU: Utah residents with Northern and Western European ancestry from the CEPH collection; CHB: Han Chinese in Beijing, China; CHD: ...
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Streamlined analysis of duplex sequencing data with Du Novo
... low frequency variants First, we evaluated the performance of Du Novo by ap- plying it to a dataset generated from a simulated mixing ...the frequency of ...of minor allele frequency ...
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Genome wide association studies for diabetic macular edema and proliferative diabetic retinopathy
... TXT 21943 kb Abbreviations Chr: Chromosome; DME: Diabetic macular edema; DR: Diabetic retinopathy; GWAS: Genome-wide association study; MAF: Minor allele frequency; N: Number of particip[r] ...
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Original Article Association of MSX1 genetic polymorphisms with non-syndromic cleft lip with or without cleft palate in a uyghur population in Xinjiang, China
... genotypes, Minor allele carriers (AG+GG) and Minor allele frequency showed significant difference between NSCL/P and control subjects ...The frequency of the minor ...
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A second generation human haplotype.pdf
... In Phase II of the HapMap Project, a further 2.1 million SNPs were successfully genotyped on the same individuals. The resulting HapMap has an SNP density of approximately one per kilobase and is estimated to contain ...
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Effect modification by vitamin D receptor genetic polymorphisms in the association between cumulative lead exposure and pulse pressure: a longitudinal study
... food frequency question- naire), (xi) ignoring observations of subjects who are tak- ing blood pressure control medication, and (xii) separating the blood pressure control medication variable into two variables: a ...
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Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels
... In this study we have been able to replicate the associ- ation of the PD risk loci by using a PRS approach and furthermore have replicated an association of the PRS with age at onset [10]. For the age at onset analyses ...
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On the Distribution of Temporal Variations in Allele Frequency
... in allele frequencies at neu- where p x(i,l) [respectively p y(i,l) ] represents the frequency tral markers (Krimbas and Tsakas 1971; Waples of allele i at locus l in the sample of S x individuals ...
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Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study
... to detect rare causal variants, we applied these two algo- rithms to assess the influence of called rare variants. This was necessary since standard association tests of in- dividual rare variants (MAF < 0.01) are ...
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My sister's keeper?: genomic research and the identifiability of siblings
... p(match|!sibs) can be calculated for each SNP using the population frequency; it is the probability that two unre- lated individuals in the population would share the same genotype, 'AA', 'Aa', or 'aa'. The ...
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Association of IL12B polymorphisms with susceptibility to Graves ophthalmopathy in a Taiwan Chinese population
... In our study, there were many more female patients than male patients (female:male, 3.8:1). Because sex ratio is one variable that can affect the results of case–control association studies, a sex-stratification analysis ...
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Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis
... coding, contributing only to the 5′ untranslated sequence mRNA transcripts. As noncoding 5′ exons can play a role in temporal or spatial gene expression (10), the location of the CFRD-associated variants upstream and ...
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